Detection of full fragile X mutation
โ Scribed by Pergolizzi, R.G.; Erster, S.H.; Goonewardena, P.; Brown, W.T.
- Book ID
- 122655245
- Publisher
- The Lancet
- Year
- 1992
- Tongue
- English
- Weight
- 298 KB
- Volume
- 339
- Category
- Article
- ISSN
- 0140-6736
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In the fragile X female carriers the degree of cognitive impairment appears to be correlated with activation status of the X chromosome bearing the expanded trinucleotide repeat in the promoter of the FMR1 gene. In this study we asked if the deviations from the primarily random pattern of X inactiva
Large expansions of the CGG repeat in the 5' untranslated region of the FMR1 gene are found in patients with the fragile X syndrome. Amplified CGG repeats in FMR1 are unstable and show intergenerational increase from mother to offspring. The exact timing of repeat amplification, however, is unknown.